Are the nail-patella syndrome and the au
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GianMarco Ghiggeri; Gianluca Caridi; Paola Altieri; Annalisa Pezzolo; Giorgio Gi
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Article
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1993
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Springer
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English
โ 366 KB
The COL5A1 gene, which encodes the pro alpha 1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibrobla